Incidental Mutation 'R8291:Vmp1'
| ID |
638707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmp1
|
| Ensembl Gene |
ENSMUSG00000018171 |
| Gene Name |
vacuole membrane protein 1 |
| Synonyms |
Tmem49, Tango5, 4930579A11Rik, 3110098I04Rik |
| MMRRC Submission |
067713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86474691-86574662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86498064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 284
(P284S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018315]
|
| AlphaFold |
Q99KU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018315
AA Change: P284S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018315
Gene: ENSMUSG00000018171
AA Change: P284S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
78 |
95 |
N/A |
INTRINSIC |
|
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
|
Pfam:SNARE_assoc
|
190 |
303 |
1.5e-10 |
PFAM |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
transmembrane domain
|
371 |
388 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,655,017 (GRCm39) |
V1447G |
probably damaging |
Het |
| Adgrf2 |
A |
T |
17: 43,021,451 (GRCm39) |
F458I |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,556,554 (GRCm39) |
E571G |
possibly damaging |
Het |
| Ap1b1 |
T |
A |
11: 4,968,027 (GRCm39) |
N179K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,715,169 (GRCm39) |
F2053L |
probably damaging |
Het |
| Ddx18 |
A |
G |
1: 121,487,904 (GRCm39) |
V378A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,263,743 (GRCm39) |
F826S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,984,701 (GRCm39) |
N3133S |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,943 (GRCm39) |
T275A |
probably benign |
Het |
| Gm5862 |
A |
T |
5: 26,224,444 (GRCm39) |
V175E |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,990 (GRCm39) |
S106P |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,284,894 (GRCm39) |
L666P |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,572 (GRCm39) |
D686G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,432 (GRCm39) |
|
probably null |
Het |
| Or8g52 |
T |
C |
9: 39,630,841 (GRCm39) |
V106A |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,662 (GRCm39) |
V323A |
possibly damaging |
Het |
| Prkab2 |
A |
G |
3: 97,569,605 (GRCm39) |
E57G |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,632,288 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,968,166 (GRCm39) |
I1208F |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,887,138 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
G |
3: 134,637,910 (GRCm39) |
R356G |
possibly damaging |
Het |
| Tmc4 |
A |
G |
7: 3,674,421 (GRCm39) |
V310A |
probably benign |
Het |
| Tmem205 |
G |
A |
9: 21,832,354 (GRCm39) |
L186F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,617,553 (GRCm39) |
E16306G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,915,538 (GRCm39) |
*497W |
probably null |
Het |
| Ubr1 |
G |
A |
2: 120,741,596 (GRCm39) |
T979I |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,255 (GRCm39) |
I259N |
possibly damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,693,018 (GRCm39) |
S299P |
probably damaging |
Het |
| Zfp438 |
G |
T |
18: 5,211,010 (GRCm39) |
S676* |
probably null |
Het |
| Zfp94 |
T |
A |
7: 24,002,155 (GRCm39) |
Y429F |
probably damaging |
Het |
|
| Other mutations in Vmp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02207:Vmp1
|
APN |
11 |
86,498,019 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1179:Vmp1
|
UTSW |
11 |
86,498,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Vmp1
|
UTSW |
11 |
86,552,026 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1847:Vmp1
|
UTSW |
11 |
86,534,413 (GRCm39) |
nonsense |
probably null |
|
|
R4094:Vmp1
|
UTSW |
11 |
86,534,406 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4256:Vmp1
|
UTSW |
11 |
86,552,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4817:Vmp1
|
UTSW |
11 |
86,492,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5267:Vmp1
|
UTSW |
11 |
86,554,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5618:Vmp1
|
UTSW |
11 |
86,554,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5921:Vmp1
|
UTSW |
11 |
86,477,336 (GRCm39) |
missense |
probably benign |
|
|
R6800:Vmp1
|
UTSW |
11 |
86,556,913 (GRCm39) |
splice site |
probably null |
|
|
R7150:Vmp1
|
UTSW |
11 |
86,477,402 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7216:Vmp1
|
UTSW |
11 |
86,492,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7582:Vmp1
|
UTSW |
11 |
86,476,225 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7593:Vmp1
|
UTSW |
11 |
86,477,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8747:Vmp1
|
UTSW |
11 |
86,492,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Vmp1
|
UTSW |
11 |
86,476,156 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGCACAGCCTTTGACTG -3'
(R):5'- GACCTTTATCCCGTGTCATACAG -3'
Sequencing Primer
(F):5'- GAGCACAGCCTTTGACTGTGTAC -3'
(R):5'- CTTTATCCCGTGTCATACAGAAAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation